Abstract

Introduction: The occurrence of non-autoimmune diabetes mellitus in individuals with a confirmed diagnosis of congenital hyperinsulinism has previously been reported in individuals with a heterozygous inactivating mutation of the ABCC8 gene. We describe a patient with CHI who developed diabetes mellitus and review the proposed mechanism and treatment options.

Case Description: A 12-year old Vietnamese-American female presented with new-onset, antibody negative diabetes. As an infant, she experienced episodes of hypoglycemia and was found to have congenital hyperinsulinism caused by a maternally inherited ABCC8 gene mutation. The child’s hypoglycemia was treated symptomatically, without pharmacological or surgical intervention. During the ensuing 7 years, she remained asymptomatic. As a teen, she developed typical polyuria, polydipsia and was found to be hyperglycemic. Standard diabetes-related antibodies were negative. She was initially treated with multiple daily injections (MDI) of insulin, with plans to transition her to an oral hypoglycemic agent.

Conclusion: The cause of diabetes in individuals with CHI is unknown. Currently it is thought to be due to increased metabolic demand with unregulated insulin secretion, leading to pre-mature apoptosis of the pancreatic beta cells. An understanding of the pathophysiology of diabetes in CHI is important in determining treatment options.

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Poster

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Non-Autoimmune Diabetes Mellitus in a 12-Year Old Vietnamese-American Female with Congenital Hyperinsulinism (CHI)

Introduction: The occurrence of non-autoimmune diabetes mellitus in individuals with a confirmed diagnosis of congenital hyperinsulinism has previously been reported in individuals with a heterozygous inactivating mutation of the ABCC8 gene. We describe a patient with CHI who developed diabetes mellitus and review the proposed mechanism and treatment options.

Case Description: A 12-year old Vietnamese-American female presented with new-onset, antibody negative diabetes. As an infant, she experienced episodes of hypoglycemia and was found to have congenital hyperinsulinism caused by a maternally inherited ABCC8 gene mutation. The child’s hypoglycemia was treated symptomatically, without pharmacological or surgical intervention. During the ensuing 7 years, she remained asymptomatic. As a teen, she developed typical polyuria, polydipsia and was found to be hyperglycemic. Standard diabetes-related antibodies were negative. She was initially treated with multiple daily injections (MDI) of insulin, with plans to transition her to an oral hypoglycemic agent.

Conclusion: The cause of diabetes in individuals with CHI is unknown. Currently it is thought to be due to increased metabolic demand with unregulated insulin secretion, leading to pre-mature apoptosis of the pancreatic beta cells. An understanding of the pathophysiology of diabetes in CHI is important in determining treatment options.